Testing family members for cardiac genetic abnormalities following a sudden adult death can save lives
Cathriona Muldoon, of Athenry, Co Galway. She says she has come to terms with having a genetic heart condition. Photograph: Joe O’Shaughnessy
However, in May 2020, Cathriona’s 44-year-old sister, Sinéad, died in hospital following a cardiac arrest. Her sister’s autopsy showed similar scarring on her heart to that shown on Cathriona’s MRI scan. “I contacted the family screening clinic at the Mater and explained what happened. The clinic then did deeper genetic testing on blood samples from myself and my sister which found we both had the Lamin gene, which causes heart scarring and arrhythmia.
Cathriona Muldoon decided to go public about her experience in the hope she can save other people’s lives. Photograph: Joe O'Shaughnessy The second group of heart conditions with a potential genetic origin is those which cause abnormalities of the heart’s electrical system. These include Long QT syndrome, which can result in sudden cardiac death due to a fast chaotic heart rhythm.
Family members must, however, give permission for genetic testing of the blood of the deceased family member before the geneticists at the Mater hospital can do deep gene testing to see if conditions are inherited or not.
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